Canonical Allele Identifier: CA011343

Gene: PMS2

Linked Data

• ClinVar Variation Id: 184746
• ClinVar RCV Id: RCV000164056 ; RCV001080792 ; RCV001174679 ; RCV000679357
• dbSNP Id: rs535056715
• ExAC: 7:6017306 C / G
• gnomAD v2: 7-6017306-C-G
• gnomAD v3: 7-5977675-C-G
• gnomAD v4: 7-5977675-C-G
• MyVariant Identifiers: chr7:g.6017306C>G (hg19) ; chr7:g.5977675C>G (hg38)
• PubMed: PMID:19132747

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977675C>G , CM000669.2:g.5977675C>G	GRCh38
NC_000007.13:g.6017306C>G , CM000669.1:g.6017306C>G	GRCh37
NC_000007.12:g.5983832C>G	NCBI36
NG_008466.1:g.36432G>C , LRG_161:g.36432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1754G>C	ENSP00000514615.2:n.*1754G>C
ENST00000699840.2:c.2355G>C	ENSP00000514638.2:p.Leu785=
ENST00000699930.2:c.2250G>C	ENSP00000514695.2:p.Leu750=
ENST00000406569.8:c.1718G>C	ENSP00000514464.1:p.Ter573Ser
ENST00000644110.2:c.*1952G>C	ENSP00000496392.2:n.*1952G>C
ENST00000699752.1:c.2202G>C	ENSP00000514561.1:p.Leu734=
ENST00000699753.1:c.*1779G>C	ENSP00000514562.1:n.*1779G>C
ENST00000699754.1:c.2160G>C	ENSP00000514563.1:p.Leu720=
ENST00000699755.1:c.*1757G>C	ENSP00000514564.1:n.*1757G>C
ENST00000699756.1:c.*1945G>C	ENSP00000514565.1:n.*1945G>C
ENST00000699757.1:c.*1615G>C	ENSP00000514566.1:n.*1615G>C
ENST00000699758.1:c.*1615G>C	ENSP00000514567.1:n.*1615G>C
ENST00000699759.1:n.3212G>C
ENST00000699760.1:c.2040G>C	ENSP00000514568.1:p.Leu680=
ENST00000699761.1:c.1953G>C	ENSP00000514569.1:p.Leu651=
ENST00000699762.1:c.1785G>C	ENSP00000514570.1:p.Leu595=
ENST00000699763.1:c.*1448G>C	ENSP00000514571.1:n.*1448G>C
ENST00000699764.1:c.*676G>C	ENSP00000514572.1:n.*676G>C
ENST00000699765.1:c.*1353G>C	ENSP00000514573.1:n.*1353G>C
ENST00000699766.1:c.2391G>C	ENSP00000514574.1:p.Leu797=
ENST00000699767.1:c.2315G>C	ENSP00000514575.1:p.Ter772Ser
ENST00000699768.1:c.2214G>C	ENSP00000514576.1:p.Leu738=
ENST00000699811.1:c.1953G>C	ENSP00000514614.1:p.Leu651=
ENST00000699813.1:n.2471G>C
ENST00000699814.1:c.1981G>C
ENST00000699815.1:c.*1889G>C	ENSP00000514616.1:n.*1889G>C
ENST00000699816.1:c.*1248G>C	ENSP00000514617.1:n.*1248G>C
ENST00000699817.1:c.*1952G>C	ENSP00000514618.1:n.*1952G>C
ENST00000699818.1:c.1953G>C	ENSP00000514619.1:p.Leu651=
ENST00000699819.1:c.*1515G>C	ENSP00000514620.1:n.*1515G>C
ENST00000699820.1:c.*296G>C	ENSP00000514621.1:n.*296G>C
ENST00000699821.1:c.1986G>C	ENSP00000514622.1:p.Leu662=
ENST00000699822.1:c.*1810G>C	ENSP00000514623.1:n.*1810G>C
ENST00000699823.1:c.1953G>C	ENSP00000514624.1:p.Leu651=
ENST00000699824.1:c.*1861G>C	ENSP00000514625.1:n.*1861G>C
ENST00000699825.1:c.1797G>C	ENSP00000514626.1:p.Leu599=
ENST00000699826.1:c.*1757G>C	ENSP00000514627.1:n.*1757G>C
ENST00000699827.1:c.2190G>C	ENSP00000514628.1:p.Leu730=
ENST00000699828.1:c.*1448G>C	ENSP00000514629.1:n.*1448G>C
ENST00000699833.1:n.4130G>C
ENST00000699837.1:c.1953G>C	ENSP00000514635.1:p.Leu651=
ENST00000699838.1:c.*2258G>C	ENSP00000514636.1:n.*2258G>C
ENST00000699839.1:c.2544G>C	ENSP00000514637.1:p.Leu848=
ENST00000699916.1:c.*1615G>C	ENSP00000514684.1:n.*1615G>C
ENST00000699917.1:c.*1807G>C	ENSP00000514685.1:n.*1807G>C
ENST00000699918.1:c.*1859G>C	ENSP00000514686.1:n.*1859G>C
ENST00000699919.1:c.*1945G>C	ENSP00000514687.1:n.*1945G>C
ENST00000699920.1:c.*1994G>C	ENSP00000514688.1:n.*1994G>C
ENST00000699928.1:c.*296G>C	ENSP00000514693.1:n.*296G>C
ENST00000699951.1:c.*1411G>C	ENSP00000514706.1:n.*1411G>C
ENST00000699952.1:c.804-4133G>C	ENSP00000514707.1:n.804-4133G>C
ENST00000265849.12:c.2358G>C MANE Select	ENSP00000265849.7:p.Leu786=
ENST00000642292.1:c.1953G>C	ENSP00000495524.1:p.Leu651=
ENST00000642456.1:c.1953G>C	ENSP00000493814.1:p.Leu651=
ENST00000643595.1:c.*1757G>C	ENSP00000494497.1:n.*1757G>C
ENST00000644110.1:c.2040G>C	ENSP00000496392.1:p.Leu680=
ENST00000265849.11:c.2358G>C	ENSP00000265849.7:p.Leu786=
ENST00000382321.5:c.1155G>C	ENSP00000371758.4:p.Leu385=
ENST00000406569.7:n.1718G>C
ENST00000441476.6:c.2040G>C	ENSP00000392843.2:p.Leu680=
NM_000535.5:c.2358G>C , LRG_161t1:c.2358G>C	NP_000526.1:p.Leu786=
NR_003085.2:n.2440G>C
XM_006715742.2:c.2352G>C	XP_006715805.1:p.Leu784=
XM_006715744.2:c.1425G>C	XP_006715807.1:p.Leu475=
XM_011515427.1:c.2403G>C	XP_011513729.1:p.Leu801=
XM_011515428.1:c.2247G>C	XP_011513730.1:p.Leu749=
XM_011515429.1:c.2040G>C	XP_011513731.1:p.Leu680=
XM_011515430.1:c.2040G>C	XP_011513732.1:p.Leu680=
NM_000535.6:c.2358G>C	NP_000526.2:p.Leu786=
NM_001322003.1:c.1953G>C	NP_001308932.1:p.Leu651=
NM_001322004.1:c.1953G>C	NP_001308933.1:p.Leu651=
NM_001322005.1:c.1953G>C	NP_001308934.1:p.Leu651=
NM_001322006.1:c.2202G>C	NP_001308935.1:p.Leu734=
NM_001322007.1:c.2040G>C	NP_001308936.1:p.Leu680=
NM_001322008.1:c.2040G>C	NP_001308937.1:p.Leu680=
NM_001322009.1:c.1986G>C	NP_001308938.1:p.Leu662=
NM_001322010.1:c.1797G>C	NP_001308939.1:p.Leu599=
NM_001322011.1:c.1425G>C	NP_001308940.1:p.Leu475=
NM_001322012.1:c.1425G>C	NP_001308941.1:p.Leu475=
NM_001322013.1:c.1785G>C	NP_001308942.1:p.Leu595=
NM_001322014.1:c.2391G>C	NP_001308943.1:p.Leu797=
NM_001322015.1:c.2049G>C	NP_001308944.1:p.Leu683=
NR_136154.1:n.2402G>C
XM_006715744.4:c.1425G>C	XP_006715807.1:p.Leu475=
XM_017012342.2:c.1425G>C	XP_016867831.1:p.Leu475=
XM_024446800.1:c.1797G>C	XP_024302568.1:p.Leu599=
NM_000535.7:c.2358G>C MANE Select	NP_000526.2:p.Leu786=
NM_001322003.2:c.1953G>C	NP_001308932.1:p.Leu651=
NM_001322004.2:c.1953G>C	NP_001308933.1:p.Leu651=
NM_001322005.2:c.1953G>C	NP_001308934.1:p.Leu651=
NM_001322006.2:c.2202G>C	NP_001308935.1:p.Leu734=
NM_001322008.2:c.2040G>C	NP_001308937.1:p.Leu680=
NM_001322009.2:c.1986G>C	NP_001308938.1:p.Leu662=
NM_001322010.2:c.1797G>C	NP_001308939.1:p.Leu599=
NM_001322011.2:c.1425G>C	NP_001308940.1:p.Leu475=
NM_001322012.2:c.1425G>C	NP_001308941.1:p.Leu475=
NM_001322013.2:c.1785G>C	NP_001308942.1:p.Leu595=
NM_001322014.2:c.2391G>C	NP_001308943.1:p.Leu797=
NM_001322015.2:c.2049G>C	NP_001308944.1:p.Leu683=
NM_001322007.2:c.2040G>C	NP_001308936.1:p.Leu680=